Last reviewed: November 2017
Last updated: November  2016

Summary

Definition

History and exam

Key diagnostic factors

  • presence of risk factors
  • decreased peripheral vision
  • night blindness
  • impaired dark adaptation
  • decreased central acuity
  • atrophy of retinal pigment epithelium
  • bone spicule pigmentation

Other diagnostic factors

  • waxy pale optic nerve
  • photopsias
  • refractive error
  • cataracts
  • retinal vascular attenuation
  • cystoid macular oedema
  • vitreous cells
  • glare from bright lights
  • abnormal colour vision
  • keratoconus
  • glaucoma
  • optic nerve head drusen
  • Coats-like retinopathy
  • Leber's congenital amaurosis

Risk factors

  • family history
  • presence of an associated syndrome

Diagnostic investigations

1st investigations to order

  • assessment of visual acuity
  • Goldmann kinetic perimetry test
  • electroretinogram (ERG)
Full details

Investigations to consider

  • elevated final dark-adapted threshold
  • optical coherence tomography (OCT)
  • genetic testing
  • adaptive optics imaging
  • wide-field fundus autofluorescence (FAF)
Full details

Emerging tests

  • whole exome sequencing
Full details

Treatment algorithm

ACUTE

Contributors

Authors VIEW ALL

Mark E. Pennesi

Assistant Professor

Casey Eye Institute

Oregon Health and Sciences University

Portland

OR

Disclosures

MEP has worked as a consultant for IONIS Pharmaceuticals, Sparks Therapeutics, Editas, ProQR Therapeutics, and Applied Genetic Technologies Corp. He has received clinical trial support from Applied Genetic Technologies Corp, Sanofi, and grant support from the Foundation Fighting Blindness.

Richard G. Weleber

Professor

Casey Eye Institute

Oregon Health and Sciences University

Portland

OR

Disclosures

RGW has served as consultant to Novartis, Pfizer, and Wellstat; is a member of the scientific advisory board for Applied Genetic Technologies Corp; and serves on the scientific advisory board for the Foundation Fighting Blindness (the relationship has been reviewed and managed by Oregon Health & Science University). RGW also reports having received grants and personal fees from the Foundation Fighting Blindness and Applied Genetic Technologies Corp, and other support from Sanofi-Fovea, all outside the submitted work. In addition, RGW has a patent (US patent 8,657,446, Method and apparatus for visual field monitoring, also known as Visual Field Monitoring and Analysis, or VFMA, which has not been issued).

Paul Yang

Assistant Professor

Casey Eye Institute

Oregon Health and Sciences University

Portland

OR

Disclosures

PY declares that he has no competing interests.

Dr Mark E. Pennesi, Dr Richard G. Weleber, and Dr Paul Yang would like to gratefully acknowledge Dr Peter J. Francis, a previous contributor to this monograph. PJF declares that he has no competing interests.

Peer reviewers VIEW ALL

Consultant Ophthalmologist

Sunderland Eye Infirmary

Sunderland

UK

Disclosures

SF declares that he has no competing interests.

Professor of Ophthalmology

Director

Center for Genetic Eye Diseases

Cole Eye Institute

Cleveland Clinic

Cleveland

OH

Disclosures

ET declares that he has no competing interests.

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